abetalipoproteinemia /abeta·lipo·pro·tein·emia/ (a-ba″tah-lip″o-pro″te-ne´me-ah) a hereditary syndrome marked by a lack of lipoproteins that contain apolipoprotein B (chylomicrons, very-low-density lipoproteins, and low-density lipoproteins) in the blood and by acanthocytosis, hypocholesterolemia, progressive ataxic neuropathy, atypical retinitis pigmentosa, and malabsorption.
abetalipoproteinemia
abetalipoproteinemia
normotriglyceridemic abetalipoproteinemia a variant form in which apolipoprotein (apo) B-48 is present but apo B-100 is absent; chylomicrons are formed, and some fat absorption may occur.
a·be·ta·lip·o·pro·tein·e·mi·a ( -b t -l p -prt -n m-, -t--n-)n. An inherited disorder characterized by the absence of low-density lipoproteins in the plasma, the presence of acanthocytes in the blood, retinal pigmentary degeneration, malabsorption of fats, and neuromuscular abnormalities. Also called Bassen-Kornzweig syndrome. |
abetalipoproteinemia
[əbā′təlīp′ōprō′tinē′mē·ə]
Etymology: Gk, a + beta, not beta, lipos, fat, proteios, first rank, haima, blood
a group of rare inherited disorders of fat metabolism, characterized by the absence of apoprotein B-100 and manifested by acanthocytosis, low or absent serum beta-lipoprotein levels, and hypocholesterolemia. In severe cases, steatorrhea, ataxia, nystagmus, motor incoordination, and retinitis pigmentosa occur. Also called Bassen-Kornzweig syndrome [-kôrn′zwīg] .
abetalipoproteinemia
Bassen-Kornzweig syndrome A rare AR condition most common in Askanazi Jews Clinical Cerebellar ataxia, peripheral neuropathy, retinitis pigmentosa, fat malabsorption, steatorrhea, chronic diarrhea, anemia, FTT Lab
Acanthocytosis, ↓ VLDL-cholesterol, ↓ LDL-cholesterol, absent apoB, when homozygous Management Medium-chain TGs, water-miscible vitamin E
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